Blepharo-Cheilo-Dontic Syndrome. First case in Ecuador.

Paola Jacqueline Velez


The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, cleft lip and palate, and oligodontia comprises the Blepharo-Cheilo-Dontic (BCD) syndrome. This combination has described as an autosomal dominant condition with variable expression. We described an Ecuadorian girl with consistent signs from BCD syndrome. Our patient also has unilateral hearing loss and metatarsus varus. The aim of this paper is to add this case of Blepharo-Cheilo-Dontic Syndrome to world casuistry, because it is considered a rare disease.


Blepharo-Cheilo-Dontic; cleft lip and palate; euryblepharon; lagophthalmia; ectropion; distichiasis; unilateral hearing loss; metatarsus varus.

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Informes Periódicos de Orphanet. Prevalence of rare diseases: Bibliographic data. Marzo 2016. Número 2.

Ababneh K, Al-Swaid A, Elhag A, Youssef T, Alsaif S. Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature. Am J Med Genet A. 2014 Jun;164A(6):1525-9. doi: 10.1002/ajmg.a.36465. Epub 2014 Apr 9.

Gorlin R, Zellweger H, Curtis M, et al. Blepharo-cheilo-dontic (BCD) syndrome. Am J Med Genet. 1996 Oct 16;65(2):109-12.

Iida A, Narai S, Takagi R, Ono K, Ikeda N. Blepharo-cheilo-dontic (BCD) syndrome: case report. Cleft Palate Craniofac J. 2006 Mar;43(2):237-43.

Valdéz-de la Torre M, Quintana-García M, Canún S. Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients. Am J Med Genet. 1999 Jul 16;85(2):157-9.

Freitas E, Martinhago C, Ramos S, Murray J, Gil-da-Silva-Lopes V. Preliminary molecular studies on blepharocheilodontic syndrome. Am. J. Med. Genet. 2007; 143(A): 2757-59.

Gil-da-Silva-Lopes V, Guion-Almeida M, De Oliveira Rodini E. Blepharocheilodontic (BCD) syndrome: expanding the phenotype? Am. J. Med. Genet. 2003;121(A): 266-270.

Wu D, Mandal S, Choi A, et al. DLX4 is associated with orofacial clefting and abnormal jaw development. Hum Mol Genet. 2015 Aug 1;24(15):4340-52. doi: 10.1093/hmg/ddv167. Epub 2015 May 7.

Navasheillaretna R, Sockalingam S. Clinical Manifestation of Blepharocheilodontic (BCD) Syndrome: A Case Review. Sains Malaysiana. 2013; 42(1): 85–88.

Miyamoto T, Nakajima T, Nagasao T, Shimada T. Blepharocheilodontic Syndrome: Surgical. Management of Euryblepharon and Nocturnal Eyelid Eversion. Plastic and Reconstructive Surgery, 2004 Jul; 114(1). doi:10.1097/01.PRS.0000129076.34336.49

Weaver K, Rutledge K, Grant J, Robin N. Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.

Adeboye S, Cole B, Jepson N, Hodgkinson P. Multidisciplinary management of Blepharo-Cheilo-Dontic Syndrome and the role of overdenture in dental management. Eur J Paediatr Dent. 2009 Dec;10(4):201-4.

Yen M, Lucci L, Anderson R. Management of eyelid anomalies associated with Blepharo-cheilo-dontic syndrome. Am J Ophthalmol. 2001 Aug;132(2):279-80.